Developmental Genetics & Birth Defects

The overall objective of my program of research is to use a clinical genetics perspective to inform the development of novel biological and non-biological interventions to improve outcomes for individuals with psychiatric disorders and to support their families.

Characterization of the stem cell state and its control by comparative global gene expression and proteomics analyses.

Mendelian disorders of body weight regulation and their relevance to common obesity and metabolic syndrome. Transgenic/knockout mice with perturbations of energy intake and energy expenditure. Weaver syndrome – mutation detection and new therapies. Clinical uses of next-generation sequencing for rare versions of common disease. Personalized Genomics.

Neurological mutant mice are used as entrees into studying the genetics, cell biology and development of genes that are critical to nervous system development.

Mammalian development, Transcriptional regulation and epigenetics, Hepatocyte differentiation, Heart valve formation, Signal transduction, Transgenic/knockout mice, Whole genome profiling

Neurogenetics, Huntington disease and other triplet repeat disorders, transgenic/knockout mice, mouse models of human neurodegenerative disease, experimental therapeutics.

Role of imprinted genes in mammalian development. Epigenetics of embryonic stem cells and germ cell lineage. Gene targeting.

Discovery of monogenic causes of human developmental or metabolic disorders; natural history of monogenic disorders; optimal management of mitochondrial disorders.

Genetic, genomic and comprehensive phenotyping studies for the autism spectrum disorders, idiopathic intellectual disabilities and other complex disorders of neurodevelopmental and/or behavioral disability.

Chromosomal etiology of intellectual disability/autism and cancer, Molecular cytogenetics, Identification of subtle chromosomal abnormalities using whole genome arrays

Genetics and epigenetics related to fetal development and obstetrical complications of pregnancy such as fetal growth restriction, preterm birth, and birth defects. We use genomic and bioinformatic techniques to understand pathological processes related to placenta that affect the fetus and newborn.

Gene-based therapies for diseases of the brain and eye, cell-type specific MiniPomoters for rAAV delivery of gene augmentation and genome editing (CRISPR/cas9) therapies to cure mouse models of the human disease.

Melanoma, Mouse models, Developmental Genetics.

Telomere and telomerase biology, inherited bone marrow failure syndromes, X-linked inheritance, cancer risk and therapeutics.